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https://www.readbyqxmd.com/read/28924745/hypertonia-linked-protein-trak1-functions-with-mitofusins-to-promote-mitochondrial-tethering-and-fusion
#1
Crystal A Lee, Lih-Shen Chin, Lian Li
Hypertonia is a neurological dysfunction associated with a number of central nervous system disorders, including cerebral palsy, Parkinson's disease, dystonia, and epilepsy. Genetic studies have identified a homozygous truncation mutation in Trak1 that causes hypertonia in mice. Moreover, elevated Trak1 protein expression is associated with several types of cancers and variants in Trak1 are linked to childhood absence epilepsy in humans. Despite the importance of Trak1 in health and disease, the mechanisms of Trak1 action remain unclear and the pathogenic effects of Trak1 mutation are unknown...
September 18, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28917500/economic-evaluation-of-childhood-epilepsy-in-a-resource-challenged-setting-a-preliminary-survey
#2
Aliyu Ibrahim, Umar Isa Umar, Umar Musa Usman, Lukman Femi Owolabi
BACKGROUND: Considerable disease variability exists between patients with epilepsy, and the societal costs for epilepsy care are overall high, because of high frequency in the general population especially in children from developing countries. MATERIALS AND METHODS: A cross-sectional study where children with established diagnosis of epilepsy were interviewed using a semi-structured questionnaire. Prevalence-based costs were stratified by patients' sociodemographic characteristics and socioeconomic scores (SES)...
September 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28916534/pretreatment-behavior-and-subsequent-medication-effects-in-childhood-absence-epilepsy
#3
Ruth C Shinnar, Shlomo Shinnar, Avital Cnaan, Peggy Clark, Dennis Dlugos, Deborah G Hirtz, Fengming Hu, Chunyan Liu, David Masur, Erica F Weiss, Tracy A Glauser
OBJECTIVE: To characterize pretreatment behavioral problems and differential effects of initial therapy in children with childhood absence epilepsy (CAE). METHODS: The Child Behavior Checklist (CBCL) was administered at baseline, week 16-20, and month 12 visits of a randomized double-blind trial of ethosuximide, lamotrigine, and valproate. Total problems score was the primary outcome measure. RESULTS: A total of 382 participants at baseline, 310 participants at the week 16-20 visit, and 168 participants at the month 12 visit had CBCL data...
September 15, 2017: Neurology
https://www.readbyqxmd.com/read/28914199/clinical-applications-of-intravenous-immunoglobulins-in-child-neurology
#4
Maria Gogou, Efimia Papadopoulou-Alataki, Martha Spilioti, Sofia Alataki, Athanasios Evangeliou
BACKGROUND: While there are guidelines for the use of intravenous immunoglobulins in children with Guillain-Barre syndrome and myasthenia gravis based on high-level evidence studies, data is fewer for the majority of neurologic disorders in this age group. Neuronal antibodies are detected in children with seizures of autoimmune etiology. Intravenous immunoglobulins with their broad immunomodulatory mechanism of action could be ideally effective in different forms of immune-dysregulated intractable epilepsies such as autoimmune epilepsy and autoimmune Rasmussen encephalitis...
September 15, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#5
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28911200/homozygous-eef1a2-mutation-causes-dilated-cardiomyopathy-failure-to-thrive-global-developmental-delay-epilepsy-and-early-death
#6
Siqi Cao, Laura L Smith, Sergio R Padilla-Lopez, Brandon S Guida, Elizabeth Blume, Jiahai Shi, Sarah U Morton, Catherine A Brownstein, Alan H Beggs, Michael C Kruer, Pankaj B Agrawal
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28901011/persistent-aberrant-cortical-phase-amplitude-coupling-following-seizure-treatment-in-absence-epilepsy-models
#7
Atul Maheshwari, Abraham Akbar, Mai Wang, Rachel Marks, Katherine Yu, Suhyeorn Park, Brett L Foster, Jeffrey L Noebels
In childhood absence epilepsy, cortical seizures are brief and intermittent; however there are extended periods without behavioural or electrographic ictal events. This genetic disorder is associated with variable degrees of cognitive dysfunction, but no consistent functional biomarkers that might provide insight into interictal cortical function have been described. Previous work in monogenic mouse models of absence epilepsy have shown that the interictal EEG displays augmented beta/gamma power in homozygous stargazer (stg/stg) mice bearing a presynaptic AMPA receptor defect, but not homozygous tottering (tg/tg) mice with a P/Q type calcium channel mutation...
September 12, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28899461/-alternating-hemiplegia-of-childhood-and-epilepsy-in-an-infant
#8
Hui Chen, Ping Liu, Wen-Guang Hu, Jia Deng, Yan-Juan Wang
No abstract text is available yet for this article.
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#9
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28896000/-symptomatic-absence-seizures-the-least-known-causation-of-absence-seizures
#10
L Carrera-Garcia, I Malaga-Dieguez, R Blanco-Lago, A Diaz-Baamonde, L Santovena-Gonzalez, J Gonzalez-Rato
INTRODUCTION: According to the 1981 International League Against Epilepsy classification, absence seizures are the paradigm of idiopathic generalised seizures of childhood. Although absences are mainly of an idiopathic origin, there are also symptomatic absences, which account for 10% of all cases of absences. It is thought that a structural pathology can favour the appearance of absences in genetically predisposed individuals. CASE REPORTS: We report the cases of two patients with symptomatic absence seizures of childhood onset...
September 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28893644/high-bone-mass-due-to-novel-lrp5-and-amer1-mutations
#11
Alice Costantini, Päivi Kekäläinen, Riikka E Mäkitie, Outi Mäkitie
WNT signaling is a key regulator of bone metabolism and its increased or decreased activity leads to skeletal disorders. Here we describe two patients with high bone mass (HBM) caused by novel mutations in two different WNT pathway components. The first patient is a 53-year-old male with HBM. He was diagnosed at adult age based on significantly increased bone mineral density (BMD). He has undergone several surgeries due to excessive bone in ear canals, bilateral jaw exostoses and mandibular tori. Radiographs show severe cortical thickening of cranial and long bones...
September 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28888331/hamartia-in-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#12
REVIEW
K L Gawelek, J M Gales, R A Prayson
Hamartia are small collections of rounded glioneuronal cells that are thought to be due to aberrant cell migration. Their presence has been recognized in association with mesial temporal lobe epilepsy; their prevalence among cases of hippocampal sclerosis (HS) and any potential association with patient demographics and outcomes is unknown. This study examines hamartia in a series of 292 patients with pathologically confirmed HS. Medical records were reviewed for pertinent patient clinical information (follow-up mean 5years)...
September 6, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28887607/respiratory-distress-syndrome-in-preterm-infants-and-risk-of-epilepsy-in-a-danish-cohort
#13
Sandra Kruchov Thygesen, Morten Olsen, Lars Pedersen, Victor W Henderson, John Rosendahl Østergaard, Henrik Toft Sørensen
Infant respiratory distress syndrome (IRDS) may be complicated by intracerebral hemorrhage, a known trigger of epilepsy. However, few data exist on long term epilepsy risk following IRDS. We therefore examined the association between IRDS in preterm infants and childhood epilepsy. We conducted a population-based cohort study using individual-level data linkage among nationwide registries. All infants born at 32-36 weeks of gestation in 1978-2009 were identified in the Medical Birth Registry. We identified children with IRDS and those with epilepsy using the Danish National Patient Registry...
September 8, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28884208/lacosamide-treatment-of-childhood-refractory-focal-epilepsy-the-first-reported-side-effect-in-paediatric-patients
#14
Edibe Pembegul Yildiz, Melis Ulak Ozkan, Gonca Bektas, Tuğçe Aksu Uzunhan, Nur Aydinli, Mine Caliskan, Meral Ozmen
PURPOSE: Lacosamide (LCM) is an effective antiepileptic drug (AED) approved for the treatment of focal epilepsy in both children and adults. The aim of this observational study was to review our centre's experience with LCM and to characterise its efficacy and tolerability as an adjunct therapy in children with refractory focal epilepsy. METHODS: We retrospectively reviewed the medical records of 12 paediatric patients who underwent treatment with LCM from January 2014 to December 2015...
September 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28883873/circadian-rhythm-and-the-seasonal-variation-in-childhood-febrile-seizure
#15
Reza Sharafi, Afagh Hassanzadeh Rad, Vahid Aminzadeh
OBJECTIVE: We aimed to assess the circadian rhythm and the seasonal variation in childhood febrile seizure (FS). MATERIALS & METHODS: This descriptive cross-sectional study was conducted retrospectively on patients' records. Investigators assessed the records of patients with simple FS aged 6 to 60 months referred to Emergency Department of 17-Shahrivar Hospital, Rasht northern Iran during Jan 2010 to Jan 2013. Data were gathered by a checklist including age, sex, temperature, duration of seizure, seasonal, months, diurnal variation, and level of consciousness...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#16
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28866336/-atypical-forms-of-benign-epilepsy-with-centrotemporal-spikes-bects-how-to-diagnose-and-guide-these-children-a-practical-scientific-approach
#17
REVIEW
Pasquale Parisi, Maria Chiara Paolino, Umberto Raucci, Alessandro Ferretti, Maria Pia Villa, Dorothee Kasteleijn-Nolst Trenite
Benign epilepsy with centrotemporal spikes (BECTS) epilepsy, also known as rolandic epilepsy, is the most common childhood type of epilepsy. There is debate on its "benign" definition given the numerous literature data on its correlation to cognitive morbidity. Although its prognosis is often favorable, BECTS can present or evolve however to an atypical form, characterized by a worse prognosis and negative impact on cognitive development. It is possible that abnormal electrical activity, marker of neurological dysfunction, has the potential to disrupt neural network function and development...
August 31, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28852255/temporal-lobe-seizures-presenting-as-abrupt-clinging-behavior-in-a-child
#18
Shabina A Sheth, Nilanjan C Chandra, Ritambhara Y Mehta
True and psychogenic nonepileptic seizures (PNES) go hand in hand. One colors the picture of other. Although it is thought that children carry lower risk for PNES than adults, this may represent the under-diagnosis of this condition in childhood due to few studies on this specific topic. Again, true seizure can be misdiagnosed by dramatic and varied manifestations appearing as psychological phenomena. We report a case of a 9-year-old boy presenting with sudden onset, short lasting, off and on different "melodramatic" episodic behavioral problems with La-Belle' indifference without loss of consciousness, appearing to be of psychogenic origin but finally ended with a diagnosis of temporal lobe epilepsy and responded dramatically with antiepileptics...
July 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#19
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28843213/response-shift-in-parents-assessment-of-health-related-quality-of-life-of-children-with-new-onset-epilepsy
#20
Tolulope T Sajobi, Kathy N Speechley, Zhiying Liang, Shane W Goodwin, Mark A Ferro, Samuel Wiebe
OBJECTIVE: Diagnosis of epilepsy is known to impact health-related quality of life (HRQOL) of children with new-onset epilepsy and can also influence their conceptualization and valuation of HRQOL construct, also known as response shift. This study investigates the presence of response shift in a cohort of children with new-onset epilepsy. METHODS: Data are from the HEalth-Related QUality of Life in children with Epilepsy Study, a prospective cohort study of 373 children with new-onset epilepsy...
August 23, 2017: Epilepsy & Behavior: E&B
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